Variant report

Variant	rs73084894
Chromosome Location	chr1:220134964-220134965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11118471	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11118478	1.00[AMR][1000 genomes]
rs11118488	0.80[AFR][1000 genomes]
rs11811749	0.80[AFR][1000 genomes]
rs12057663	0.84[AFR][1000 genomes]
rs12059479	0.84[AFR][1000 genomes]
rs12059527	0.84[AFR][1000 genomes]
rs12060231	0.84[AFR][1000 genomes]
rs12072662	0.84[AFR][1000 genomes]
rs12079635	0.84[AFR][1000 genomes]
rs12080610	0.84[AFR][1000 genomes]
rs12084196	0.84[AFR][1000 genomes]
rs12095669	0.84[AFR][1000 genomes]
rs12097441	1.00[AMR][1000 genomes]
rs2011624	1.00[AMR][1000 genomes]
rs5030751	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690280	0.84[AFR][1000 genomes]
rs6692978	0.80[AFR][1000 genomes]
rs6702241	0.83[AFR][1000 genomes]
rs7537559	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
3	esv3347973	chr1:220132829-220135427	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	inside rSNPs	n/a
4	esv3371730	chr1:220132854-220135702	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	2 gene(s)	inside rSNPs	n/a
5	esv3419804	chr1:220133229-220135027	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220129200-220145800	Weak transcription	HepG2	liver
2	chr1:220132000-220138800	Weak transcription	Aorta	Aorta
3	chr1:220132200-220144200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:220132400-220143200	Weak transcription	Colonic Mucosa	Colon
5	chr1:220132800-220141000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:220133000-220141200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:220133400-220138600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:220133600-220140800	Weak transcription	Fetal Intestine Large	intestine
10	chr1:220133600-220141000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:220133600-220142200	Weak transcription	Small Intestine	intestine
12	chr1:220134600-220135000	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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